Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01554:Fam83b'

90663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01554

Quality Score

Status

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76502121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 241 (Y241F)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098546] [ENSMUST00000183437]

AlphaFold

Q0VBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000098546
AA Change: Y241F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: Y241F

Domain	Start	End	E-Value	Type
Pfam:DUF1669	12	282	5.6e-109	PFAM
Pfam:PLDc_2	139	277	2.4e-12	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183437
AA Change: Y241F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: Y241F

Domain	Start	End	E-Value	Type
Pfam:DUF1669	7	283	2.8e-111	PFAM
Pfam:PLDc_2	139	277	2.4e-9	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	G	1: 134,389,958	N156S	probably damaging	Het
Abca8a	T	C	11: 110,042,166	I1211V	probably benign	Het
Adgre4	A	G	17: 55,817,090	S497G	probably damaging	Het
Ankrd55	T	C	13: 112,323,067	M65T	possibly damaging	Het
Ermard	A	G	17: 15,051,593	D338G	possibly damaging	Het
Espl1	T	C	15: 102,313,225	L983P	probably damaging	Het
Ext2	A	C	2: 93,811,949	L192V	probably damaging	Het
Fam189b	A	G	3: 89,185,581	T257A	probably damaging	Het
Fbxl12	G	A	9: 20,638,919	P170S	possibly damaging	Het
Fsip2	C	A	2: 82,977,278	P1314T	possibly damaging	Het
Greb1l	A	G	18: 10,522,144	R747G	probably benign	Het
Hspa1a	G	T	17: 34,970,524	P468T	probably damaging	Het
Lamb1	T	C	12: 31,306,977	C1028R	probably damaging	Het
Lcn8	C	T	2: 25,654,186	A40V	possibly damaging	Het
Lmbrd2	A	G	15: 9,165,819	Y260C	possibly damaging	Het
Mex3d	G	T	10: 80,382,035	N449K	possibly damaging	Het
Ncam2	A	G	16: 81,512,935	K438E	possibly damaging	Het
Nudt7	A	G	8: 114,147,885		probably benign	Het
Nup214	C	A	2: 32,051,072	S39*	probably null	Het
Olfr821	T	C	10: 130,034,183	S186P	probably damaging	Het
Olfr866	T	C	9: 20,027,408	I177V	possibly damaging	Het
Opn5	A	G	17: 42,607,198	S58P	probably damaging	Het
Pcsk1	T	A	13: 75,132,307	N750K	probably benign	Het
Pdzrn3	T	C	6: 101,150,541	N1055D	probably damaging	Het
Phf2	T	A	13: 48,805,879	K884*	probably null	Het
Prkdc	A	G	16: 15,652,302	N191S	probably benign	Het
Prpf8	A	T	11: 75,495,646	Q987L	probably damaging	Het
Prrc2c	G	A	1: 162,710,786	P425L	probably damaging	Het
Rab36	T	C	10: 75,050,688	I166T	possibly damaging	Het
Rab3gap1	G	T	1: 127,928,008	L461F	possibly damaging	Het
Rnls	A	T	19: 33,391,099	Y27N	possibly damaging	Het
Sncaip	A	T	18: 52,868,934	I176F	possibly damaging	Het
Tagap	G	A	17: 7,932,948	G322S	probably benign	Het
Tas2r130	C	T	6: 131,630,083	A250T	probably benign	Het
Tgs1	A	G	4: 3,593,632	S507G	probably null	Het
Ttn	T	C	2: 76,875,712		probably benign	Het
Zp2	T	C	7: 120,138,325	K246E	possibly damaging	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76490978	missense	probably benign	0.00
IGL01694:Fam83b	APN	9	76490990	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76492322	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76492000	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76493042	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76491152	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76492928	nonsense	probably null
R0946:Fam83b	UTSW	9	76491397	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76491295	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76545670	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76492312	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76503076	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76492612	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76492577	missense	probably benign
R1939:Fam83b	UTSW	9	76493080	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76492022	missense	probably benign
R2102:Fam83b	UTSW	9	76492705	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76491016	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76502218	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76490810	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76491661	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76503053	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76492142	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76491868	missense	probably benign
R5456:Fam83b	UTSW	9	76492595	missense	probably benign
R5473:Fam83b	UTSW	9	76491500	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76491850	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76492357	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76492907	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76502131	nonsense	probably null
R6912:Fam83b	UTSW	9	76490932	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76502112	frame shift	probably null
R7073:Fam83b	UTSW	9	76545749	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76492853	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76490875	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76492432	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76492048	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76492144	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76492455	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76491985	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76491098	missense	probably benign
R8983:Fam83b	UTSW	9	76493075	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76492794	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76491421	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76491803	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76545581	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76491220	missense	probably benign	0.00

Posted On

2013-12-09